Associate Professor (with tenure), Human Genetics and Pediatrics, UCLA School of Medicine
Medical Genetics
Dr. Julian A. Martinez, MD
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Julian A. Martinez works in the field of Medical Genetics. He graduated from Yale University School of Medicine. Yale University School of Medicine is a top medical university. Yale University School of Medicine is ranked 7 in research and 57 in primary care medicine He over the years received 3 awards: "David W. Smith Pediatric Trainee Award", "Outstanding Research Award" and "Alpha Omega Alpha Medical Honor Society". Julian Martinez is also published. He has 23 publications published. The lastest publication: "DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.'
Publications
- DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
- Novel liver findings in ornithine transcarbamylase deficiency due to Xp11.4-p21.1 microdeletion.
- Insulin- and warts-dependent regulation of tracheal plasticity modulates systemic larval growth during hypoxia in Drosophila melanogaster.
- Yorkie and Scalloped signaling regulates Notch-dependent lineage specification during Drosophila hematopoiesis.
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders.
- Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome.
- Effects of mTOR Inhibitors on Components of the Salvador-Warts-Hippo Pathway.
- Extracellular matrix-modulated Heartless signaling in Drosophila blood progenitors regulates their differentiation via a Ras/ETS/FOG pathway and target of rapamycin f...
- Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry.
- Macrocephaly as a clinical indicator of genetic subtypes in autism.
- Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndrome.
- Support for calcium channel gene defects in autism spectrum disorders.
- Multifaceted roles of PTEN and TSC orchestrate growth and differentiation of Drosophila blood progenitors.
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome.
- Phenotypic progression of skeletal anomalies in CLOVES syndrome.
- Stem cell niche dynamics: from homeostasis to carcinogenesis.
- Interaction between differentiating cell- and niche-derived signals in hematopoietic progenitor maintenance.
- B-acute lymphoblastic leukemia and cystinuria in a patient with duplication 22q11.21 detected by chromosomal microarray analysis.
- Bilateral exophthalmos: Report of a case and review of a fibroblast growth factor receptor 2 mutation associated with non-penetrant Crouzon syndrome.
- Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
- Danon disease with typical early-onset cardiomyopathy in a male: focus on a novel LAMP-2 mutation.
- Single-gene disorders: what role could moonlighting enzymes play?
Schools
Yale University
UCLA Med Center
UCLA Intercampus Program
Doctors Specialties
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- David W. Smith Pediatric Trainee Award
- Outstanding Research Award
- Alpha Omega Alpha Medical Honor Society
Education
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Cedars-Sinai Medical Center -
UCLA Medical Center -
Yale University School of Medicine
Hospital
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Mattel Children's Hospital UCLA -
Ronald Reagan UCLA Medical Center -
Santa Monica-UCLA Medical Center and Orthopaedic Hospital
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1134344716 |
| Last Name Of The Provider | MARTINEZ |
| First Name Of The Provider | JULIAN |
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